ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.1964A>G (p.Gln655Arg) (rs9397509)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000445089 SCV000615598 likely benign not provided 2017-12-28 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000445089 SCV000511396 likely benign not provided 2016-10-13 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000118457 SCV000226972 benign not specified 2014-12-24 criteria provided, single submitter clinical testing
GeneDx RCV000118457 SCV000523364 benign not specified 2016-10-10 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000118457 SCV000152863 benign not specified 2017-07-07 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000361444 SCV000461559 likely benign Cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000263930 SCV000461560 likely benign Emery-Dreifuss muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000531997 SCV000649096 benign Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2018-01-11 criteria provided, single submitter clinical testing

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